LOCUS       NM_001305007            5130 bp    mRNA    linear   PRI 11-OCT-2024
DEFINITION  Homo sapiens solute carrier family 5 member 7 (SLC5A7), transcript
            variant 4, mRNA.
ACCESSION   NM_001305007
VERSION     NM_001305007.3
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 5130)
  AUTHORS   Muntadas,J.A., Hyland,M.R., Martinez,M.D.R.O., Young,J.N.,
            Chong,J.X., Bamshad,M.J. and Maselli,R.A.
  TITLE     Congenital myasthenic syndrome secondary to pathogenic variants in
            the SLC5A7 gene: report of two cases
  JOURNAL   BMC Med Genomics 17 (1), 207 (2024)
   PUBMED   39135055
  REMARK    GeneRIF: Congenital myasthenic syndrome secondary to pathogenic
            variants in the SLC5A7 gene: report of two cases.
            Publication Status: Online-Only
REFERENCE   2  (bases 1 to 5130)
  AUTHORS   Tian,S., Sun,H., Gao,F.F., Zhang,K., Nan,J., Niu,M., Jia,X., Xu,G.
            and Ge,W.
  TITLE     Genetic analysis of a family affected by congenital myasthenic
            syndrome due to a Novel mutation in the SLC5A7 gene
  JOURNAL   BMC Neurol 24 (1), 206 (2024)
   PUBMED   38886633
  REMARK    GeneRIF: Genetic analysis of a family affected by congenital
            myasthenic syndrome due to a Novel mutation in the SLC5A7 gene.
            Publication Status: Online-Only
REFERENCE   3  (bases 1 to 5130)
  AUTHORS   Black,S.A. and Rylett,R.J.
  TITLE     Choline transporter CHT regulation and function in cholinergic
            neurons
  JOURNAL   Cent Nerv Syst Agents Med Chem 12 (2), 114-121 (2012)
   PUBMED   22483273
  REMARK    GeneRIF: [review] The critical role of CHT in maintaining
            cholinergic transmission indicates that it could be a target for
            therapeutic intervention to promote acetylcholine synthesis, the
            accomplishment of which has not been adequately addressed.
            Review article
REFERENCE   4  (bases 1 to 5130)
  AUTHORS   Ribeiro,F.M., Alves-Silva,J., Volknandt,W., Martins-Silva,C.,
            Mahmud,H., Wilhelm,A., Gomez,M.V., Rylett,R.J., Ferguson,S.S.,
            Prado,V.F. and Prado,M.A.
  TITLE     The hemicholinium-3 sensitive high affinity choline transporter is
            internalized by clathrin-mediated endocytosis and is present in
            endosomes and synaptic vesicles
  JOURNAL   J Neurochem 87 (1), 136-146 (2003)
   PUBMED   12969261
REFERENCE   5  (bases 1 to 5130)
  AUTHORS   Okuda,T., Okamura,M., Kaitsuka,C., Haga,T. and Gurwitz,D.
  TITLE     Single nucleotide polymorphism of the human high affinity choline
            transporter alters transport rate
  JOURNAL   J Biol Chem 277 (47), 45315-45322 (2002)
   PUBMED   12237312
  REMARK    GeneRIF: Results describe the identification and functional
            characterization of a single nucleotide polymorphism in the high
            affinity choline transporter (CHT1) gene.
REFERENCE   6  (bases 1 to 5130)
  AUTHORS   Haberberger,R.V., Pfeil,U., Lips,K.S. and Kummer,W.
  TITLE     Expression of the high-affinity choline transporter, CHT1, in the
            neuronal and non-neuronal cholinergic system of human and rat skin
  JOURNAL   J Invest Dermatol 119 (4), 943-948 (2002)
   PUBMED   12406342
  REMARK    GeneRIF: high-affinity choline transporter, choline transporter 1,
            in nerve fibers and epithelial cells in the human and rat skin
            supporting the pivotal role of this transporter in both the
            neuronal and non-neuronal cholinergic system of the skin.
REFERENCE   7  (bases 1 to 5130)
  AUTHORS   McEntagart,M., Norton,N., Williams,H., Teare,M.D., Dunstan,M.,
            Baker,P., Houlden,H., Reilly,M., Wood,N., Harper,P.S.,
            Futreal,P.A., Williams,N. and Rahman,N.
  TITLE     Localization of the gene for distal hereditary motor neuronopathy
            VII (dHMN-VII) to chromosome 2q14
  JOURNAL   Am J Hum Genet 68 (5), 1270-1276 (2001)
   PUBMED   11294660
REFERENCE   8  (bases 1 to 5130)
  AUTHORS   Okuda,T. and Haga,T.
  TITLE     Functional characterization of the human high-affinity choline
            transporter
  JOURNAL   FEBS Lett 484 (2), 92-97 (2000)
   PUBMED   11068039
REFERENCE   9  (bases 1 to 5130)
  AUTHORS   Apparsundaram,S., Ferguson,S.M., George,A.L. Jr. and Blakely,R.D.
  TITLE     Molecular cloning of a human, hemicholinium-3-sensitive choline
            transporter
  JOURNAL   Biochem Biophys Res Commun 276 (3), 862-867 (2000)
   PUBMED   11027560
REFERENCE   10 (bases 1 to 5130)
  AUTHORS   Abicht,A., Muller,J.S. and Lochmuller,H.
  TITLE     Congenital Myasthenic Syndromes Overview
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301347
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from DA714970.1, BC111524.1 and
            AC009963.11.
            
            On Jun 2, 2019 this sequence version replaced NM_001305007.2.
            
            Summary: This gene encodes a sodium ion- and chloride ion-dependent
            high-affinity transporter that mediates choline uptake for
            acetylcholine synthesis in cholinergic neurons. The protein
            transports choline from the extracellular space into presynaptic
            terminals for synthesis into acetylcholine. Increased choline
            uptake results from increased density of this protein in
            synaptosomal plasma membranes in response to depolarization of
            cholinergic terminals. Dysfunction of cholinergic signaling has
            been implicated in various disorders including depression,
            attention-deficit disorder, and schizophrenia. An allelic variant
            of this gene is associated with autosomal dominant distal
            hereditary motor neuronopathy type VIIA. Alternative splicing
            results in multiple transcript variants. [provided by RefSeq, Jul
            2015].
            
            Transcript Variant: This variant (4) uses an alternate internal
            splice junction compared to variant 1. This difference causes
            translation initiation at a downstream AUG and results in an
            isoform (c) with a shorter N-terminus compared to isoform 1.
            
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data to make the sequence consistent with the
            reference genome assembly. The genomic coordinates used for the
            transcript record were based on transcript alignments.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: BC111524.1 [ECO:0000332]
            RNAseq introns              :: partial sample support SAMEA2144335,
                                           SAMEA2145240 [ECO:0000350]
            ##Evidence-Data-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-48                DA714970.1         12-59
            49-2589             BC111524.1         1-2541
            2590-5130           AC009963.11        178034-180574
FEATURES             Location/Qualifiers
     source          1..5130
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="2"
                     /map="2q12.3"
     gene            1..5130
                     /gene="SLC5A7"
                     /gene_synonym="CHT; CHT1; CMS20; DHMNVP; hCHT1; HMN7A;
                     HMND7"
                     /note="solute carrier family 5 member 7"
                     /db_xref="GeneID:60482"
                     /db_xref="HGNC:HGNC:14025"
                     /db_xref="MIM:608761"
     exon            1..240
                     /gene="SLC5A7"
                     /gene_synonym="CHT; CHT1; CMS20; DHMNVP; hCHT1; HMN7A;
                     HMND7"
                     /inference="alignment:Splign:2.1.0"
     exon            241..469
                     /gene="SLC5A7"
                     /gene_synonym="CHT; CHT1; CMS20; DHMNVP; hCHT1; HMN7A;
                     HMND7"
                     /inference="alignment:Splign:2.1.0"
     exon            470..583
                     /gene="SLC5A7"
                     /gene_synonym="CHT; CHT1; CMS20; DHMNVP; hCHT1; HMN7A;
                     HMND7"
                     /inference="alignment:Splign:2.1.0"
     exon            584..739
                     /gene="SLC5A7"
                     /gene_synonym="CHT; CHT1; CMS20; DHMNVP; hCHT1; HMN7A;
                     HMND7"
                     /inference="alignment:Splign:2.1.0"
     exon            740..888
                     /gene="SLC5A7"
                     /gene_synonym="CHT; CHT1; CMS20; DHMNVP; hCHT1; HMN7A;
                     HMND7"
                     /inference="alignment:Splign:2.1.0"
     exon            889..995
                     /gene="SLC5A7"
                     /gene_synonym="CHT; CHT1; CMS20; DHMNVP; hCHT1; HMN7A;
                     HMND7"
                     /inference="alignment:Splign:2.1.0"
     CDS             996..1997
                     /gene="SLC5A7"
                     /gene_synonym="CHT; CHT1; CMS20; DHMNVP; hCHT1; HMN7A;
                     HMND7"
                     /note="isoform c is encoded by transcript variant 4; high
                     affinity choline transporter; hemicholinium-3-sensitive
                     choline transporter; high affinity choline transporter 1;
                     solute carrier family 5 (sodium/choline cotransporter),
                     member 7; Motor neuronopathy, distal hereditary, with
                     vocal cord paresis; Motor neuronopathy, distal hereditary,
                     type VIIA"
                     /codon_start=1
                     /product="high affinity choline transporter 1 isoform c"
                     /protein_id="NP_001291936.1"
                     /db_xref="GeneID:60482"
                     /db_xref="HGNC:HGNC:14025"
                     /db_xref="MIM:608761"
                     /translation="MLGGIPWQAYFQRVLSSSSATYAQVLSFLAAFGCLVMAIPAILI
                     GAIGASTDWNQTAYGLPDPKTTEEADMILPIVLQYLCPVYISFFGLGAVSAAVMSSAD
                     SSILSASSMFARNIYQLSFRQNASDKEIVWVMRITVFVFGASATAMALLTKTVYGLWY
                     LSSDLVYIVIFPQLLCVLFVKGTNTYGAVAGYVSGLFLRITGGEPYLYLQPLIFYPGY
                     YPDDNGIYNQKFPFKTLAMVTSFLTNICISYLAKYLFESGTLPPKLDVFDAVVARHSE
                     ENMDKTILVKNENIKLDELALVKPRQSMTLSSTFTNKEAFLDVDSSPEGSGTEDNLQ"
     exon            996..1149
                     /gene="SLC5A7"
                     /gene_synonym="CHT; CHT1; CMS20; DHMNVP; hCHT1; HMN7A;
                     HMND7"
                     /inference="alignment:Splign:2.1.0"
     exon            1150..1367
                     /gene="SLC5A7"
                     /gene_synonym="CHT; CHT1; CMS20; DHMNVP; hCHT1; HMN7A;
                     HMND7"
                     /inference="alignment:Splign:2.1.0"
     exon            1368..5130
                     /gene="SLC5A7"
                     /gene_synonym="CHT; CHT1; CMS20; DHMNVP; hCHT1; HMN7A;
                     HMND7"
                     /inference="alignment:Splign:2.1.0"
     regulatory      5112..5117
                     /regulatory_class="polyA_signal_sequence"
                     /gene="SLC5A7"
                     /gene_synonym="CHT; CHT1; CMS20; DHMNVP; hCHT1; HMN7A;
                     HMND7"
                     /note="hexamer: ATTATA"
     polyA_site      5130
                     /gene="SLC5A7"
                     /gene_synonym="CHT; CHT1; CMS20; DHMNVP; hCHT1; HMN7A;
                     HMND7"
                     /note="major polyA site"
ORIGIN      
        1 gattcccacc tcgccctgcg ccgcgcgccc tccgccggcg ccaacacctg tcaactctgc
       61 gcgctcccag gttcttggag acgccgagtg aggagccgcc ctgaccgccc ggccccgctc
      121 cgcactgcac cccgacccac cccgcaccct ccctttctgc accctcgcac ccacacccct
      181 cgcggttcca gggggcggcg gccccgggcg gagcgctttc gcgtgcagcc accactccag
      241 aagacttaat gaagtagcca gctgcagaag aatctggatc attagataaa aatggctttc
      301 catgtggaag gactgatagc tatcatcgtg ttctaccttc taattttgct ggttggaata
      361 tgggctgcct ggagaaccaa aaacagtggc agcgcagaag agcgcagcga agccatcata
      421 gttggtggcc gagatattgg tttattggtt ggtggattta ccatgacagc tacctgggtc
      481 ggaggagggt atatcaatgg cacagctgaa gcagtttatg taccaggtta tggcctagct
      541 tgggctcagg caccaattgg atattctctt agtctgattt taggtggcct gttctttgca
      601 aaacctatgc gttcaaaggg gtatgtgacc atgttagacc cgtttcagca aatctatgga
      661 aaacgcatgg gcggactcct gtttattcct gcactgatgg gagaaatgtt ctgggctgca
      721 gcaattttct ctgctttggg agccaccatc agcgtgatca tcgatgtgga tatgcacatt
      781 tctgtcatca tctctgcact cattgccact ctgtacacac tggtgggagg gctctattct
      841 gtggcctaca ctgatgtcgt tcagctcttt tgcatttttg tagggctgtc gcagacatcg
      901 ggttcactgc tgtgcatgcc aaataccaaa agccgtggct gggaactgtt gactcatctg
      961 aagtctactc ttggcttgat agttttctgt tgttgatgct gggtggaatc ccatggcaag
     1021 catactttca gagggttctc tcttcttcct cagccaccta tgctcaagtg ctgtccttcc
     1081 tggcagcttt cgggtgcctg gtgatggcca tcccagccat actcattggg gccattggag
     1141 catcaacaga ctggaaccag actgcatatg ggcttccaga tcccaagact acagaagagg
     1201 cagacatgat tttaccaatt gttctgcagt atctctgccc tgtgtatatt tctttctttg
     1261 gtcttggtgc agtttctgct gctgttatgt catcagcaga ttcttccatc ttgtcagcaa
     1321 gttccatgtt tgcacggaac atctaccagc tttccttcag acaaaatgct tcggacaaag
     1381 aaatcgtttg ggttatgcga atcacagtgt ttgtgtttgg agcatctgca acagccatgg
     1441 ccttgctgac gaaaactgtg tatgggctct ggtacctcag ttctgacctt gtttacatcg
     1501 ttatcttccc ccagctgctt tgtgtactct ttgttaaggg aaccaacacc tatggggccg
     1561 tggcaggtta tgtttctggc ctcttcctga gaataactgg aggggagcca tatctgtatc
     1621 ttcagccctt gatcttctac cctggctatt accctgatga taatggtata tataatcaga
     1681 aatttccatt taaaacactt gccatggtta catcattctt aaccaacatt tgcatctcct
     1741 atctagccaa gtatctattt gaaagtggaa ccttgccacc taaattagat gtatttgatg
     1801 ctgttgttgc aagacacagt gaagaaaaca tggataagac aattcttgtc aaaaatgaaa
     1861 atattaaatt agatgaactt gcacttgtga agccacgaca gagcatgacc ctcagctcaa
     1921 ctttcaccaa taaagaggcc ttccttgatg ttgattccag tccagaaggg tctgggactg
     1981 aagataattt acagtgaccc catctaaata aaatactgct tttgcaaaca gaacactgta
     2041 atagggtagt tctggagaga tggtatgcag catacaaaaa tatattaaaa atataaacaa
     2101 tgttcaggag agtaaaaatt catataaagt gcaattgcac aaatacaagc caagctagaa
     2161 ggaagcacct atgaaagcaa caactttgtt tctcatccat agtagtattg attttgatgc
     2221 tagatagttt tgctaggtat aaaaaataag taaagttcca cttagagaac aaagggccaa
     2281 atagagtttt tatatttgtt atgataaaag gaagtagatg tgaaaaagcc taagaaaaag
     2341 gaaattggac agttttgata caaactttgt ttgctaatgc actgatgagt ctagtttcat
     2401 tatagcacga agctatgaga ataacttcag tcactccctt gaatggtgca atgaattaac
     2461 cagctgattt ttcttagtgt gatgattaac cccttctttc atgttctgag ctataacatt
     2521 tgctgaatat gcaatttgtt attcttttat taatggcatg taatattctg agcacgggca
     2581 aagaaaacac acaaaagatt atgtattggc atttatttat gtgcaaggtg ataggaaaac
     2641 tgaatccatc tttgtagaag agcactgggc taatttgtat gtttccatag ctactatatg
     2701 cataaacaac agtacctgaa ggattattaa gcaaccttaa agcaataagt tcattaaaca
     2761 gaaggtaata ggaagaacag tacatttttg tctttatctc aagtatataa agttttgccc
     2821 catgataaaa taagtaacat ataaattaat acataagtta atattggaag tgaaattagg
     2881 ccttatgtaa ggagaggtag ctacacagca tctgttacgg ttaatgagag gcacactgct
     2941 aaatttacgt atatttcatt gaatacttta tgggaagcct ccacaacacc tcctgatagt
     3001 agtaaaatta gaaaaaaaca aactctacta atttttagat attcattaat aggaaagatt
     3061 taatgttaca gcatctactc tttggcactt tttcacataa gccagcctta gagactagac
     3121 aaataactac tgcaaaaagt acatagtgaa ttttaaaatg tagaagaaag caaaaaataa
     3181 aataagtcct aaagtgaaga agccatcaat tttaacattt gatgtctaga taacattcat
     3241 gagattggtc attaaatact attttgctcc ttttctggtg ttacacatac acactcatac
     3301 gtgtgtgtgt gtgtatgtgt gtgtgtgtat gtgtaatgat ttgtgtccat ttcaagtgtt
     3361 ttcacaccag tcacacatta tagaaattac tggagccatg tctacaaaag caaagtgaag
     3421 tgatgagctg aaaagtgatc agggaatctg atcccataaa gaaagtgagt ctgaattgtt
     3481 gaaactaaag cacttctttt ccaaaaatac ttctgcaact catgaacaaa atgaagttaa
     3541 cttagtgttt agcattaaaa ataaaagttg taccttgacc ctagaattcc ttttataaga
     3601 tttaattgta attgtctcaa agcatcaaat aatacatctt tatcattaaa catgaattta
     3661 atgtctagga taatttttaa aagaggaaat taaataattt tacatgtctc atattttcag
     3721 tgctttctca aaatttgatg gtgaatatta cattgcattc aaaatcttca ctgaatatca
     3781 tatgtatcta aatgaaaaga gaattactta tattcatcta ttttctcaga atctattcag
     3841 taccctatgg agtacatgga agaagtatat ttttggaacc agtaagtatg ggagtccacg
     3901 attctcaggt attgattgaa aaaagagaaa ggggcaagaa attcattaaa gaaaaaccac
     3961 agatactgaa acatttgaca cataaaagta attaattgct ggagactaca attcctggca
     4021 aacaccatta ttccagatgc accatgctac ccagcatgct acctgaatgg cggtttttat
     4081 ccatcctgtc accctgagca tctgtctcaa cctgctgagg cacagacttc caccatgtgc
     4141 atcaggaaac acctcactca tactgtcata taatgcaaca gggaggcata gtctctctac
     4201 aggtctctct ctttacgttg taccattctg ttgggcaaca attgtcccaa caaccacact
     4261 taaatccagt ggggaaaaaa aggttaacag taaaaatttc ttccacgtaa ttcaatttct
     4321 cacaatagac agaaacaggg ggaaaatgtt tgccctgttc aaagtactaa aactagataa
     4381 cttaaataat ttaagccaat aaataatatt atattgtatt taacccatta ttcctcacct
     4441 accctcaaag taggtataca aaagactagt ttgttattaa tccacaaata tgctaaatgt
     4501 tagcaagatg atttttaagt acaaaaaagt ttaagattgc aaggaaggaa acaatggtca
     4561 caaggtcttt acttatgcac atttgtgcat aaatttccac ccaatttcca agacagttgt
     4621 atcacaaagc tgtgaaatgt gcaagagtat actttgtacc catcatgtgc tctgttttga
     4681 cataatgagt aatgcagaca tttacatgtt cttccagctt caatcagtag acctgatttt
     4741 caaaatctgc cctcagatga aaataaaata aacgaaacat ttagacaatg gctatattaa
     4801 tctgggaagg caacacctgt ggataaaaca ttagaagaaa acatatattt tattttcata
     4861 cttttgatat gattgtaaca tatttcttga gtaatttaaa tgctttgttt tcccacacat
     4921 attcaaatca gcaagcttgt agctggactg caatatcaac aacaagttgt ttcaaacagc
     4981 atcaaaatac aacttcattg ctacacttac aagtaatgaa ttttatgtga ctatgaaacg
     5041 aatataagct taaaataagt gaatctaata aaatggctat tcctcttttt acttggaaat
     5101 aataaattaa cattatattt taaacataaa
//
